Canonical Allele Identifier: CA363408350

Gene: CFB

Linked Data

• MyVariant Identifiers: chr6:g.31918170G>C (hg19) ; chr6:g.31950393G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950393G>C , CM000668.2:g.31950393G>C	GRCh38
NC_000006.11:g.31918170G>C , CM000668.1:g.31918170G>C	GRCh37
NC_000006.10:g.32026149G>C	NCBI36
NG_008191.1:g.9450G>C , LRG_136:g.9450G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1791G>C
ENST00000483004.2:c.1409-226G>C	ENSP00000419887.2:n.1409-226G>C
ENST00000698628.1:c.1614G>C	ENSP00000513848.1:p.Lys538Asn
ENST00000698629.1:n.1791G>C
ENST00000698630.1:n.2330G>C
ENST00000698631.1:n.2331G>C
ENST00000698632.1:n.2910G>C
ENST00000698633.1:n.2800G>C
ENST00000698636.1:n.1836G>C
ENST00000425368.7:c.1614G>C MANE Select	ENSP00000416561.2:p.Lys538Asn
ENST00000425368.6:c.1614G>C	ENSP00000416561.2:p.Lys538Asn
ENST00000452035.6:n.1614G>C
ENST00000456570.5:c.3120G>C	ENSP00000410815.1:p.Lys1040Asn
ENST00000467360.1:n.525G>C
ENST00000477310.1:c.2667G>C	ENSP00000418996.1:p.Lys889Asn
ENST00000483004.1:c.247-226G>C
NM_001710.5:c.1614G>C , LRG_136t1:c.1614G>C	NP_001701.2:p.Lys538Asn
NM_001710.6:c.1614G>C MANE Select	NP_001701.2:p.Lys538Asn